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rs281875321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281875321(C;C)
Make rs281875321(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078307
GeneSMAD4
is asnp
is mentioned by
dbSNPrs281875321
ebirs281875321
HLIrs281875321
Exacrs281875321
Varsomers281875321
Maprs281875321
PheGenIrs281875321
hapmaprs281875321
1000 genomesrs281875321
hgdprs281875321
ensemblrs281875321
gopubmedrs281875321
geneviewrs281875321
scholarrs281875321
googlers281875321
pharmgkbrs281875321
gwascentralrs281875321
openSNPrs281875321
23andMers281875321
23andMe allrs281875321
SNP Nexus

SNPshotrs281875321
SNPdbers281875321
MSV3drs281875321
GWAS Ctlgrs281875321
Max Magnitude0
ClinVar
Risk rs281875321(C;C)
Alt rs281875321(C;C)
Reference rs281875321(T;T)
Significance Pathogenic
Disease Myhre syndrome not provided
Variation info
Gene SMAD4
CLNDBN Myhre syndrome not provided
Reversed 0
HGVS NC_000018.9:g.48604677T>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023060.5, RCV000059734.1,


[PMID 22158539] Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.


[PMID 22243968OA-icon.png] A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.